A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917541



Internal ID22692760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166449804..166450771hg38UCSC Ensembl
chr6:166863292..166864259hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38968
hg19968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17423972
Samples
Known GenesRPS6KA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917541
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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